Pericardial effusion in primary systemic carnitine deficiency.
A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case of PSCD reported to have pericardial effusion. Compound heterozygosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 pol...
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th-mahidol.231072018-08-20T14:21:26Z Pericardial effusion in primary systemic carnitine deficiency. Duangrurdee Wattanasirichaigoon Pongsak Khowsathit Anannit Visudtibhan Umaporn Suthutvoravut Dussadee Charoenpipop Sook Z. Kim Harvey L. Levy Vivian E. Shih Mahidol University Biochemistry, Genetics and Molecular Biology Medicine A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case of PSCD reported to have pericardial effusion. Compound heterozygosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 polymorphisms (c.IVS3+6A>G, c.-77G>A, c.-78C>T, and p.S95S) were identified in the patient. 2018-08-20T06:53:35Z 2018-08-20T06:53:35Z 2006-01-01 Article Journal of inherited metabolic disease. Vol.29, No.4 (2006), 589 10.1007/s10545-006-0335-7 15732665 2-s2.0-79959329233 https://repository.li.mahidol.ac.th/handle/123456789/23107 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79959329233&origin=inward |
| institution |
Mahidol University |
| building |
Mahidol University Library |
| continent |
Asia |
| country |
Thailand Thailand |
| content_provider |
Mahidol University Library |
| collection |
Mahidol University Institutional Repository |
| topic |
Biochemistry, Genetics and Molecular Biology Medicine |
| spellingShingle |
Biochemistry, Genetics and Molecular Biology Medicine Duangrurdee Wattanasirichaigoon Pongsak Khowsathit Anannit Visudtibhan Umaporn Suthutvoravut Dussadee Charoenpipop Sook Z. Kim Harvey L. Levy Vivian E. Shih Pericardial effusion in primary systemic carnitine deficiency. |
| description |
A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case of PSCD reported to have pericardial effusion. Compound heterozygosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 polymorphisms (c.IVS3+6A>G, c.-77G>A, c.-78C>T, and p.S95S) were identified in the patient. |
| author2 |
Mahidol University |
| author_facet |
Mahidol University Duangrurdee Wattanasirichaigoon Pongsak Khowsathit Anannit Visudtibhan Umaporn Suthutvoravut Dussadee Charoenpipop Sook Z. Kim Harvey L. Levy Vivian E. Shih |
| format |
Article |
| author |
Duangrurdee Wattanasirichaigoon Pongsak Khowsathit Anannit Visudtibhan Umaporn Suthutvoravut Dussadee Charoenpipop Sook Z. Kim Harvey L. Levy Vivian E. Shih |
| author_sort |
Duangrurdee Wattanasirichaigoon |
| title |
Pericardial effusion in primary systemic carnitine deficiency. |
| title_short |
Pericardial effusion in primary systemic carnitine deficiency. |
| title_full |
Pericardial effusion in primary systemic carnitine deficiency. |
| title_fullStr |
Pericardial effusion in primary systemic carnitine deficiency. |
| title_full_unstemmed |
Pericardial effusion in primary systemic carnitine deficiency. |
| title_sort |
pericardial effusion in primary systemic carnitine deficiency. |
| publishDate |
2018 |
| url |
https://repository.li.mahidol.ac.th/handle/123456789/23107 |
| _version_ |
1763496085028864000 |